HGVS | Genome Assembly |
---|---|
NC_000018.10:g.63127421C>T , CM000680.2:g.63127421C>T | GRCh38 |
NC_000018.9:g.60794654C>T , CM000680.1:g.60794654C>T | GRCh37 |
NC_000018.8:g.58945634C>T | NCBI36 |
NG_009361.1:g.196960G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000333681.5:c.*1204G>A MANE Select | ENSP00000329623.3:n.*1204G>A | |
ENST00000677635.1:n.1488G>A | ||
ENST00000678134.1:c.2128G>A | ENSP00000503628.1:n.2128G>A | |
ENST00000678301.1:c.*1204G>A | ENSP00000504546.1:n.*1204G>A | |
ENST00000678349.1:c.2476G>A | ENSP00000504190.1:n.2476G>A | |
ENST00000333681.4:c.*1204G>A | ENSP00000329623.3:n.*1204G>A | |
ENST00000398117.1:c.*1204G>A | ENSP00000381185.1:n.*1204G>A | |
NM_000633.2:c.*1204G>A | NP_000624.2:n.*1204G>A | |
NM_000633.3:c.*1204G>A MANE Select | NP_000624.2:n.*1204G>A |